HIES
MCID: HYP458
MIFTS: 56

Hyper Ige Syndrome (HIES)

Categories: Blood diseases, Immune diseases, Rare diseases, Respiratory diseases, Skin diseases
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Aliases & Classifications for Hyper Ige Syndrome

MalaCards integrated aliases for Hyper Ige Syndrome:

Name: Hyper Ige Syndrome 11 19 14
Hyper-Ige Syndrome 58 28 53 5
Hyper-Ige Recurrent Infection Syndrome 19
Hyper Immunoglobulin E Syndrome 11
Hyperimmunoglobulin E Syndrome 19
Hartnup Disease 71
Job Syndrome 71
Hyper Ige 75
Hies 19

Classifications:

Orphanet: 58  
Rare immunological diseases


External Ids:

Disease Ontology 11 DOID:0080545
ICD10 via Orphanet 32 D82.4
UMLS via Orphanet 72 C3887645
Orphanet 58 ORPHA331223
UMLS 71 C0018609 C3887645

Summaries for Hyper Ige Syndrome

Disease Ontology: 11 A hyperimmunoglobulin syndrome that is characterized by eczema, distinct facial features, a tendency to experience bone fractures and recurrent bacterial infections of the skin and lungs.

MalaCards based summary: Hyper Ige Syndrome, also known as hyper-ige syndrome, is related to hyper-ige recurrent infection syndrome 1, autosomal dominant and immunodeficiency 35, and has symptoms including seizures An important gene associated with Hyper Ige Syndrome is STAT3 (Signal Transducer And Activator Of Transcription 3), and among its related pathways/superpathways are Innate Immune System and ERK Signaling. The drugs Posaconazole and Miconazole have been mentioned in the context of this disorder. Affiliated tissues include skin, lung and bone, and related phenotypes are homeostasis/metabolism and immune system

GARD: 19 Hyper IgE syndromes (HIES) are rare primary immune deficiencies characterized by elevated serum IgE, skin inflammation (dermatitis) and recurrent skin and lung infections.

Wikipedia: 75 Hyperimmunoglobulinemia E syndrome (HIES), of which the autosomal dominant form is called Job's syndrome... more...

Related Diseases for Hyper Ige Syndrome

Diseases related to Hyper Ige Syndrome via text searches within MalaCards or GeneCards Suite gene sharing:

(show top 50) (show all 716)
# Related Disease Score Top Affiliating Genes
1 hyper-ige recurrent infection syndrome 1, autosomal dominant 33.5 STAT3 PGM3 DOP1A
2 immunodeficiency 35 32.8 TYK2 STAT3 PGM3 DOCK8 CCR6
3 hyper ige recurrent infection syndrome 1 32.3 TYK2 STAT3 PGM3 IL6 IL17A DOCK8
4 immune deficiency disease 31.5 TLR9 TLR2 IL6 IL4 IL17A IL10
5 hypereosinophilic syndrome 31.5 STAT3 IL4 IL10 IGHE IGES IFNG
6 dermatitis 31.4 TLR9 STAT3 IL6 IL4R IL4 IL17A
7 ige responsiveness, atopic 31.3 IL4R IL4 IL10 IGHE IGES IFNG
8 bronchiectasis 31.2 TLR2 IL6 IGHE IFNG
9 candidiasis 31.1 TLR4 TLR2 STAT3 IL6 IL4 IL17A
10 lung abscess 31.0 IL6 IGES IFNG DOCK8
11 exanthem 31.0 IL6 IL4 IL17A IL10 IFNG CSF2
12 tetanus 31.0 IL6 IL4 IL10 IFNG
13 folliculitis 31.0 IL4 IL17A IL10 IFNG CCR6
14 t cell deficiency 30.9 IL4 IL17A IL10 DOCK8 CCR6
15 allergic bronchopulmonary aspergillosis 30.9 IL4 IGHE IGES IFNG CCR6
16 eosinophilic gastroenteritis 30.9 IL4 IGHE CSF2
17 dermatitis, atopic 30.9 TLR9 TLR4 TLR2 STAT3 IL6 IL4R
18 food allergy 30.9 IL4R IL4 IL17A IL10 IGHE IGES
19 pneumonia 30.8 TYK2 TLR4 TLR3 TLR2 IL6 IL4
20 septic arthritis 30.8 TLR2 IL6 IL17A IL10
21 glomerulonephritis 30.8 TLR9 IL6 IL4 IL10
22 herpes zoster 30.7 TLR3 TLR2 IL10 IFNG CCR6
23 otitis media 30.7 TLR4 TLR2 IL6 IL4 IL17A IL10
24 aspergillosis 30.7 TLR9 TLR4 TLR3 TLR2 STAT3 IL6
25 esophagitis 30.7 IL6 IL4 IL10
26 oral candidiasis 30.6 IL6 IL17A CCR6
27 viral infectious disease 30.6 TLR9 TLR4 TLR3 TLR2 IL6 IL4
28 cytomegalovirus retinitis 30.6 IL10 IFNG CSF2
29 suppurative lymphadenitis 30.6 IFNG DOCK8
30 pneumocystosis 30.6 IL6 IL17A IL10 IFNG CCR6
31 keratoconjunctivitis 30.6 TLR9 IL4 IFNG
32 mastitis 30.6 TLR2 IL6 IL17A CSF2
33 burkitt lymphoma 30.6 TLR9 STAT3 IL6 IL4 IL10
34 eczema herpeticum 30.6 IL4 IGHE DOCK8 CCR6
35 cholangitis 30.6 TLR4 IL6 IL17A IL10
36 cellulitis 30.5 IL6 IL17A IGES CSF2 CCR6
37 diarrhea 30.5 TLR4 IL6 IL10 IFNG
38 lung disease 30.5 TLR9 TLR4 TLR2 STAT3 IL6 IL10
39 mycosis fungoides 30.5 STAT3 IL4 IFNG CCR6
40 aortitis 30.5 IL6 IL17A IFNG CCR6
41 periapical periodontitis 30.5 TLR2 IL6 IL17A IL10
42 schistosomiasis 30.5 IL4 IL17A IL10 IGHE IFNG
43 kimura disease 30.5 IL4 IGHE IGES
44 pemphigoid 30.5 IL6 IL4 IL17A IL10 IFNG
45 chronic mucocutaneous candidiasis 30.5 TYK2 TLR2 STAT3 PGM3 IL6 IL4
46 pyelonephritis 30.5 TLR4 IL6 IL10 IFNG
47 acquired immunodeficiency syndrome 30.5 IL6 IL10 IFNG CSF2
48 pharyngitis 30.5 TLR2 IL6 CSF2 CCR6
49 alopecia 30.4 IL6 IL4 IL17A IFNG
50 mumps 30.4 TLR3 IL6 IL10 IFNG

Graphical network of the top 20 diseases related to Hyper Ige Syndrome:



Diseases related to Hyper Ige Syndrome

Symptoms & Phenotypes for Hyper Ige Syndrome

UMLS symptoms related to Hyper Ige Syndrome:


seizures

MGI Mouse Phenotypes related to Hyper Ige Syndrome:

45 (show all 15)
# Description MGI Source Accession Score Top Affiliating Genes
1 homeostasis/metabolism MP:0005376 10.37 CCR6 CSF2 CXCL5 IFNG IL10 IL17A
2 immune system MP:0005387 10.36 CCR6 CSF2 CXCL5 DOCK8 IFNG IGHE
3 nervous system MP:0003631 10.31 CCR6 CSF2 DOCK8 IFNG IL10 IL4
4 endocrine/exocrine gland MP:0005379 10.29 CSF2 DOP1A IFNG IL10 IL17A IL4
5 renal/urinary system MP:0005367 10.22 CSF2 IFNG IL17A IL4 IL6 PGM3
6 cellular MP:0005384 10.21 CSF2 DOCK8 IFNG IL10 IL4 IL4R
7 digestive/alimentary MP:0005381 10.2 IFNG IL10 IL17A IL4 IL4R IL6
8 liver/biliary system MP:0005370 10.16 IFNG IL10 IL17A IL4 IL4R IL6
9 neoplasm MP:0002006 10.15 CSF2 IFNG IL10 IL6 STAT3 TLR2
10 hematopoietic system MP:0005397 10.13 CCR6 CSF2 CXCL5 DOCK8 DOP1A IFNG
11 respiratory system MP:0005388 10.11 CSF2 IFNG IL10 IL17A IL4 IL4R
12 reproductive system MP:0005389 10.06 CSF2 DOP1A IFNG IL10 IL4 IL6
13 skeleton MP:0005390 9.96 CSF2 IFNG IL10 IL17A IL4 IL6
14 mortality/aging MP:0010768 9.83 CSF2 CXCL5 IFNG IL10 IL17A IL4
15 integument MP:0010771 9.36 CSF2 DOP1A IFNG IL10 IL17A IL4

Drugs & Therapeutics for Hyper Ige Syndrome

Drugs for Hyper Ige Syndrome (from DrugBank, HMDB, Dgidb, PharmGKB, IUPHAR, NovoSeek, BitterDB):

(show all 46)
# Name Status Phase Clinical Trials Cas Number PubChem Id
1
Posaconazole Approved, Investigational, Vet_approved Phase 3 171228-49-2 147912
2
Miconazole Approved, Investigational, Vet_approved Phase 3 22916-47-8 4189
3
Clotrimazole Approved, Vet_approved Phase 3 23593-75-1 2812
4 Anti-Infective Agents Phase 3
5 Hormones Phase 3
6 Antiprotozoal Agents Phase 3
7 Antiparasitic Agents Phase 3
8 Hormone Antagonists Phase 3
9 Antifungal Agents Phase 3
10 Cytochrome P-450 Enzyme Inhibitors Phase 3
11
Busulfan Approved, Investigational Phase 2 55-98-1 2478
12
Fludarabine Approved Phase 2 75607-67-9, 21679-14-1 30751 657237
13
Lenograstim Approved, Investigational Phase 2 135968-09-1
14
Cyclophosphamide Approved, Investigational Phase 2 50-18-0, 6055-19-2 2907
15
Ranitidine Approved, Withdrawn Phase 2 66357-59-3, 82530-72-1, 66357-35-5 3001055 5039
16
Sodium citrate Approved, Investigational Phase 2 68-04-2 23431961
17
Histamine Approved, Investigational Phase 2 51-45-6 774
18
Citric acid Approved, Nutraceutical, Vet_approved Phase 2 77-92-9 311
19 Antirheumatic Agents Phase 2
20 Alkylating Agents Phase 2
21 Antineoplastic Agents, Alkylating Phase 2
22 Antimetabolites Phase 2
23 Anesthetics Phase 2
24 Immunosuppressive Agents Phase 2
25 Immunologic Factors Phase 2
26 Vaccines Phase 2
27 Agglutinins Phase 2
28 Immunoglobulins Phase 2
29 Antibodies Phase 2
30 Anti-Ulcer Agents Phase 2
31 Neurotransmitter Agents Phase 2
32 Antacids Phase 2
33
Ranitidine bismuth citrate Phase 2
34
Histamine phosphate Phase 2 51-74-1 134614
35 Histamine H2 Antagonists Phase 2
36 Histamine Antagonists Phase 2
37 Bismuth tripotassium dicitrate Phase 2
38
Bismuth Phase 2 7440-69-9 105143
39 Gastrointestinal Agents Phase 2
40 Citrate Phase 2
41
Omalizumab Approved, Investigational Phase 1 242138-07-4
42 Immunoglobulins, Intravenous Phase 1
43 Anti-Asthmatic Agents Phase 1
44 Anti-Allergic Agents Phase 1
45 Respiratory System Agents Phase 1
46 Pharmaceutical Solutions Early Phase 1

Interventional clinical trials:

(show all 12)
# Name Status NCT ID Phase Drugs
1 Open Label, Limited Access Protocol of Posaconazole in Invasive Fungal Infections Completed NCT00033982 Phase 3 Posaconazole
2 Related and Unrelated Donor Hematopoietic Stem Cell Transplant for DOCK8 Deficiency Recruiting NCT01176006 Phase 2 Fludarabine(Fludara, Berlex Laboratories);Cyclophosphamide(CTX, Cytoxan);Busulfan (Busulfex)
3 Bilateral Orthotopic Lung Transplant in Tandem With CD3+ and CD19+ Cell Depleted Bone Marrow Transplant From Partially HLA-Matched Cadaveric Donors Enrolling by invitation NCT01852370 Phase 1, Phase 2
4 A Phase 2a Study to Evaluate the Safety, Tolerability, and Immunogenicity of One Dose of NDV-3A Vaccine in Patients With STAT3-Mutated Hyper-IgE Syndrome Terminated NCT02996448 Phase 2 NDV-3A
5 A Double-Blind, Randomized, Placebo-Controlled Cross-Over Study Assessing the Role of Pathogen-Specific IgE and Histamine Release in the Hyper-IgE Syndrome and the Effect of Ranitidine on Laboratory and Clinical Manifestations Terminated NCT00527878 Phase 2 Ranitidine;Placebo
6 Pilot Study of Omalizumab (Xolair) in Hyper IgE (Job's) Syndrome Completed NCT00260702 Phase 1 Omalizumab (Xolair)
7 Diagnostic Efficacy of Virtual Bronchoscopy Completed NCT00001515 Phase 1
8 NFIL3-induced Pathological Enhancement of IgE Class Switch Recombination in Hyper-IgE Syndrome Unknown status NCT02228941
9 Cognitive Function in Leukocyte Disorders Completed NCT00005933
10 Multicenter, Open, Prospective, Randomized Trial of Efficacy and Safety of the Plasmapheresis Method With Albumin Compensation Compared With the Plasmapheresis Method Without Albumin Compensation for Aging Biomarkers Correction in Men and Women Aged 40 to 55 Years Old Recruiting NCT04897113
11 Natural History, Management, and Genetics of the Hyperimmunoglobulin E Recurrent Infection Syndrome (HIES) Recruiting NCT00006150
12 Skin Immunity Sample Collection Involving Blisters and Biopsies Not yet recruiting NCT03921515 Early Phase 1

Search NIH Clinical Center for Hyper Ige Syndrome

Genetic Tests for Hyper Ige Syndrome

Genetic tests related to Hyper Ige Syndrome:

# Genetic test Affiliating Genes
1 Hyper-Ige Syndrome 28

Anatomical Context for Hyper Ige Syndrome

Organs/tissues related to Hyper Ige Syndrome:

MalaCards : Skin, Lung, Bone, Bone Marrow, T Cells, B Cells, Neutrophil

Publications for Hyper Ige Syndrome

Articles related to Hyper Ige Syndrome:

(show top 50) (show all 1175)
# Title Authors PMID Year
1
Uncovering an IL-10-dependent NF-kappaB recruitment to the IL-1ra promoter that is impaired in STAT3 functionally defective patients. 53 62 5
20032313 2010
2
Mutations in STAT3 and diagnostic guidelines for hyper-IgE syndrome. 53 62 5
20159255 2010
3
Hyper IgE syndrome: an update on clinical aspects and the role of signal transducer and activator of transcription 3. 53 62 5
18978467 2008
4
Novel and recurrent STAT3 mutations in hyper-IgE syndrome patients from different ethnic groups. 53 62 5
18706697 2008
5
Novel signal transducer and activator of transcription 3 (STAT3) mutations, reduced T(H)17 cell numbers, and variably defective STAT3 phosphorylation in hyper-IgE syndrome. 53 62 5
18602572 2008
6
STAT3 mutations in the hyper-IgE syndrome. 53 62 5
17881745 2007
7
TH17 Cells in STAT3 Related Hyper-IgE Syndrome. 62 5
27226025 2016
8
Autosomal dominant STAT3 deficiency and hyper-IgE syndrome: molecular, cellular, and clinical features from a French national survey. 62 5
22751495 2012
9
SH2-domain mutations in STAT3 in hyper-IgE syndrome patients result in impairment of IL-10 function. 62 5
21792878 2011
10
Diagnostic approach to the hyper-IgE syndromes: immunologic and clinical key findings to differentiate hyper-IgE syndromes from atopic dermatitis. 62 5
20816194 2010
11
Mutations in STAT3 and IL12RB1 impair the development of human IL-17-producing T cells. 62 5
18591412 2008
12
Comprehensive genetic testing for primary immunodeficiency disorders in a tertiary hospital: 10-year experience in Auckland, New Zealand. 5
27980540 2016
13
Reduced expression of chemoattractant receptors by polymorphonuclear leukocytes in Hyper IgE Syndrome patients. 53 62
20005258 2010
14
A novel mutation in the signal transducer and activator of transcription 3 (STAT3) gene, in hyper-IgE syndrome. 53 62
20149460 2010
15
Rapid molecular analysis of the STAT3 gene in Job syndrome of hyper-IgE and recurrent infectious diseases. 53 62
20093388 2010
16
Hyper-IgE syndrome with STAT3 mutation: a case report in Mainland China. 53 62
20490271 2010
17
Large deletions and point mutations involving the dedicator of cytokinesis 8 (DOCK8) in the autosomal-recessive form of hyper-IgE syndrome. 53 62
20004785 2009
18
Hyper-IgE syndrome. 53 62
19717292 2009
19
TH17 cells and regulatory T cells in primary immunodeficiency diseases. 53 62
19410687 2009
20
STAT3 single-nucleotide polymorphisms and STAT3 mutations associated with hyper-IgE syndrome are not responsible for increased serum IgE serum levels in asthma families. 53 62
18841165 2009
21
Insights into the role of STAT3 in human lymphocyte differentiation as revealed by the hyper-IgE syndrome. 53 62
19109129 2009
22
Elevated serum immunoglobulin E (IgE): when to suspect hyper-IgE syndrome-A 10-year pediatric tertiary care center experience. 53 62
19331717 2009
23
[Hyper-IgE syndrome with mutation in STAT3 gene - case report and literature review]. 53 62
19648655 2009
24
Rare association of hyper IgE syndrome with cervical rib and natal teeth. 53 62
20101342 2009
25
Hyper IgE syndrome with umbilical hernia. 53 62
20101344 2009
26
Primary immune deficiencies with aberrant IgE production. 53 62
19084106 2008
27
Reduced memory B cells in patients with hyper IgE syndrome. 53 62
18835223 2008
28
Deficiency of Th17 cells in hyper IgE syndrome due to mutations in STAT3. 53 62
18591410 2008
29
Histopathologic Findings of Pneumatocele in a Patient with Hyper-IgE syndrome, compatible with cystic adenomatoid malformation. 53 62
18552413 2008
30
Fournier gangrene associated with hyper IgE syndrome (Job syndrome). 53 62
18380833 2008
31
[STAT3 mutation identified in patients with Hyper-IgE syndrome]. 53 62
18334168 2008
32
Hyperimmunoglobulin E syndrome (Job's syndrome). 53 62
19284090 2008
33
Dominant-negative mutations in the DNA-binding domain of STAT3 cause hyper-IgE syndrome. 53 62
17676033 2007
34
[Allergic disease with IgE hypersynthesis. Proposal of a new denomination for an allergic disease confused with immunodeficiency]. 53 62
18297852 2007
35
The hyper IgE syndrome and mutations in TYK2. 53 62
17521577 2007
36
Causes of death in hyper-IgE syndrome. 53 62
17335882 2007
37
[Pneumocystis carinii pneumonia in a patient with hyper-IgE syndrome]. 53 62
17554982 2007
38
Hyper IgE syndrome: review and future directions. 53 62
20477605 2005
39
No indication for a defect in toll-like receptor signaling in patients with hyper-IgE syndrome. 53 62
16133988 2005
40
Production of biologically active recombinant human soluble CD23 and its effect on PBMCs isolated from hyper-IgE blood. 53 62
16083870 2005
41
Non-Hodgkin's lymphoma in Job's syndrome: a case report and literature review. 53 62
15621772 2004
42
Cow's milk allergy in a patient with hyper-IgE syndrome. 53 62
15104201 2004
43
[28-Year-Old Patient with Elevated Serum IgE Levels and Multiple Refractory Epidural and Paravertebral Abscesses. Clinical manifestation of a Job's Syndrome?]. 53 62
14551710 2003
44
Hyper immunoglobulin-E syndrome: a case with chronic ear draining mimicking polypoid otitis media. 53 62
12663115 2003
45
Selective insufficiency of IFN-gamma secretion in patients with hyper-IgE syndrome. 53 62
12708982 2003
46
[Anesthetic management for a patient with hyper-IgE syndrome]. 53 62
12649874 2003
47
Detection and characterization of plasma cells in peripheral blood: correlation of IgE+ plasma cell frequency with IgE serum titre. 53 62
12452825 2002
48
[Manifestation of hyper-IgE syndrome in advanced HIV-1 infection]. 53 62
11831060 2002
49
Cytokine and chemokine dysregulation in hyper-IgE syndrome. 53 62
11414745 2001
50
[Loss of an eye due to hyper-IgE syndrome after corneal transplantation]. 53 62
11198964 2001

Variations for Hyper Ige Syndrome

ClinVar genetic disease variations for Hyper Ige Syndrome:

5 (show all 23)
# Gene Name Type Significance ClinVarId dbSNP ID Position
1 PGM3 NM_015599.3(PGM3):c.1016AAG[1] (p.Glu340del) MICROSAT Pathogenic
156471 rs267608259 GRCh37: 6:83888400-83888402
GRCh38: 6:83178681-83178683
2 DOP1A, PGM3 NM_015599.3(PGM3):c.1504G>T (p.Asp502Tyr) SNV Pathogenic
133321 rs267608261 GRCh37: 6:83880059-83880059
GRCh38: 6:83170340-83170340
3 PGM3 NM_015599.3(PGM3):c.248T>C (p.Leu83Ser) SNV Pathogenic
133320 rs267608260 GRCh37: 6:83898474-83898474
GRCh38: 6:83188755-83188755
4 STAT3 NM_139276.3(STAT3):c.1234A>T (p.Thr412Ser) SNV Pathogenic
633433 rs1567713850 GRCh37: 17:40481475-40481475
GRCh38: 17:42329457-42329457
5 STAT3 NM_139276.3(STAT3):c.1909G>A (p.Val637Met) SNV Pathogenic
18308 rs113994139 GRCh37: 17:40474492-40474492
GRCh38: 17:42322474-42322474
6 STAT3 NM_139276.3(STAT3):c.1979T>C (p.Met660Thr) SNV Likely Pathogenic
265261 rs886039434 GRCh37: 17:40474422-40474422
GRCh38: 17:42322404-42322404
7 STAT3 NM_139276.3(STAT3):c.*893dup DUP Uncertain Significance
323231 rs754306251 GRCh37: 17:40466869-40466870
GRCh38: 17:42314851-42314852
8 STAT3 NM_139276.3(STAT3):c.1101C>G (p.Cys367Trp) SNV Uncertain Significance
323246 rs886052942 GRCh37: 17:40483498-40483498
GRCh38: 17:42331480-42331480
9 DOCK8 NM_203447.4(DOCK8):c.1391C>T (p.Ser464Phe) SNV Uncertain Significance
366674 rs531279290 GRCh37: 9:336687-336687
GRCh38: 9:336687-336687
10 STAT3 NM_139276.3(STAT3):c.*2343del DEL Uncertain Significance
323206 rs886052929 GRCh37: 17:40465420-40465420
GRCh38: 17:42313402-42313402
11 DOCK8 NM_203447.4(DOCK8):c.5467C>T (p.Pro1823Ser) SNV Uncertain Significance
367026 rs766493394 GRCh37: 9:441986-441986
GRCh38: 9:441986-441986
12 STAT3 NM_139276.3(STAT3):c.*2343_*2344del DEL Uncertain Significance
323205 rs886052928 GRCh37: 17:40465419-40465420
GRCh38: 17:42313401-42313402
13 STAT3 NM_139276.3(STAT3):c.*894del DEL Uncertain Significance
323230 rs373212106 GRCh37: 17:40466869-40466869
GRCh38: 17:42314851-42314851
14 STAT3 NM_139276.3(STAT3):c.*2340dup DUP Uncertain Significance
323207 rs886052930 GRCh37: 17:40465422-40465423
GRCh38: 17:42313404-42313405
15 DOCK8 NM_203447.4(DOCK8):c.6068+11A>C SNV Uncertain Significance
367035 rs886063964 GRCh37: 9:452128-452128
GRCh38: 9:452128-452128
16 DOCK8 NM_203447.4(DOCK8):c.3234+15dup DUP Uncertain Significance
366970 rs375864618 GRCh37: 9:399267-399268
GRCh38: 9:399267-399268
17 DOCK8 NM_203447.4(DOCK8):c.828-7A>G SNV Uncertain Significance
366578 rs200243583 GRCh37: 9:325664-325664
GRCh38: 9:325664-325664
18 DOCK8 NM_203447.4(DOCK8):c.404+16del DEL Likely Benign
180037 rs727505303 GRCh37: 9:289591-289591
GRCh38: 9:289591-289591
19 STAT3 NM_139276.3(STAT3):c.*264dup DUP Likely Benign
323238 rs554015274 GRCh37: 17:40467498-40467499
GRCh38: 17:42315480-42315481
20 STAT3 NM_139276.3(STAT3):c.*342GTT[3] MICROSAT Likely Benign
323237 rs533596827 GRCh37: 17:40467410-40467412
GRCh38: 17:42315392-42315394
21 DOCK8 NM_203447.4(DOCK8):c.3234+15del DEL Likely Benign
366971 rs375864618 GRCh37: 9:399268-399268
GRCh38: 9:399268-399268
22 DOCK8-AS1, DOCK8 NM_203447.3(DOCK8):c.-113C>T SNV Benign
369626 rs2236547 GRCh37: 9:214864-214864
GRCh38: 9:214864-214864
23 STAT3 NM_139276.3(STAT3):c.1601-10dup DUP Benign
165294 rs3830585 GRCh37: 17:40475650-40475651
GRCh38: 17:42323632-42323633

Expression for Hyper Ige Syndrome

Search GEO for disease gene expression data for Hyper Ige Syndrome.

Pathways for Hyper Ige Syndrome

Pathways related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 77)
# Super pathways Score Top Affiliating Genes
1
Show member pathways
14.02 CCR6 CSF2 IFNG IL10 IL17A IL4
2
Show member pathways
13.86 STAT3 IL6 IL4R IL4 IL17A IL10
3
Show member pathways
13.84 TYK2 TLR9 TLR4 TLR3 TLR2 STAT3
4
Show member pathways
13.66 CCR6 CSF2 CXCL5 IFNG IL10 IL17A
5
Show member pathways
13.58 TYK2 STAT3 IL6 IL4R IL4 IL17A
6
Show member pathways
13.52 IFNG IL4 IL4R IL6 STAT3 TLR2
7
Show member pathways
13.4 TYK2 STAT3 IL6 IL4R IL4 IL17A
8
Show member pathways
13.36 IL6 IL4R IL4 IL17A IL10 CXCL5
9
Show member pathways
13.33 CCR6 CSF2 CXCL5 IL10 IL17A IL4
10
Show member pathways
12.94 IL6 STAT3 TLR2 TLR3 TLR4 TLR9
11
Show member pathways
12.89 TYK2 STAT3 IL6 IL4R IL4
12
Show member pathways
12.75 TLR9 TLR4 TLR3 TLR2 IL6
13
Show member pathways
12.72 TYK2 STAT3 IL6 IL4R IL4 IL17A
14
Show member pathways
12.68 TYK2 STAT3 IL6 IL17A IL10 IFNG
15
Show member pathways
12.59 IL6 TLR2 TLR3 TLR4 TLR9
16 12.57 TYK2 TLR9 TLR3 TLR2 STAT3 IL4
17
Show member pathways
12.52 TLR9 TLR4 TLR2 IL6 IL4 IFNG
18
Show member pathways
12.38 TLR2 STAT3 IL6 IL17A CXCL5 CSF2
19
Show member pathways
12.35 TLR4 TLR3 IL6 IFNG
20
Show member pathways
12.29 TLR9 TLR4 TLR3 TLR2
21
Show member pathways
12.27 TYK2 STAT3 IL10 IFNG
22 12.24 TLR9 TLR4 TLR3 TLR2 STAT3 IL6
23
Show member pathways
12.23 TYK2 IL4 IL17A IL10 IFNG CSF2
24 12.17 STAT3 IL6 IL4R IL4 IL10 IFNG
25
Show member pathways
12.15 TLR9 TLR4 TLR3 TLR2
26
Show member pathways
12.13 TLR9 TLR4 TLR3 TLR2 STAT3
27 12.11 CSF2 IFNG IL10 IL4 IL6
28 12.07 TLR4 IL6 IL4 IFNG
29
Show member pathways
12.05 TYK2 STAT3 IL4 IFNG
30
Show member pathways
12.01 TYK2 TLR9 TLR4 TLR3 TLR2
31 12.01 TYK2 STAT3 IL6 IL4R IL4 IL17A
32
Show member pathways
11.99 TLR4 STAT3 IL6 IL17A CSF2
33 11.98 STAT3 IL6 IL10 CCR6
34 11.95 IL4 IL17A IL10 IFNG
35 11.91 CCR6 IFNG IL10 IL17A IL4
36 11.89 TYK2 IL6 IFNG
37 11.87 TLR9 IL6 IL10 IFNG CSF2
38 11.86 IL6 IL4 IFNG CSF2
39
Show member pathways
11.86 IFNG IL17A IL4 IL4R IL6 STAT3
40 11.84 TLR4 IL6 IL4 IL10 IFNG
41 11.82 IL6 IL4 IL10 IFNG CSF2
42 11.81 IFNG IL10 IL6 STAT3 TLR3 TLR4
43
Show member pathways
11.77 IL6 STAT3 TYK2
44
Show member pathways
11.75 IL4 IFNG CSF2
45 11.75 TYK2 TLR4 STAT3 IL6 IL10
46 11.71 CSF2 IL4 IL6
47
Show member pathways
11.71 CSF2 IFNG IL6
48 11.7 TLR4 IL6 IL10
49 11.7 TYK2 STAT3 IL6 IL4R IL4 IL17A
50 11.69 IL4R IL4 IL10

GO Terms for Hyper Ige Syndrome

Biological processes related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

(show top 50) (show all 52)
# Name GO ID Score Top Affiliating Genes
1 positive regulation of transcription by RNA polymerase II GO:0045944 10.65 IL10 IL17A IL4 IL6 STAT3 TLR2
2 signal transduction GO:0007165 10.59 CCR6 CXCL5 IFNG IL10 IL4 IL4R
3 positive regulation of gene expression GO:0010628 10.46 CSF2 IFNG IL4 IL6 STAT3 TLR2
4 inflammatory response GO:0006954 10.42 CXCL5 IL17A IL6 STAT3 TLR2 TLR3
5 defense response to bacterium GO:0042742 10.4 IGHE IL10 TLR3 TLR4 TLR9
6 defense response to virus GO:0051607 10.39 TLR9 TLR3 TLR2 IL6 IFNG
7 cellular response to lipopolysaccharide GO:0071222 10.38 TLR9 TLR4 IL6 IL10 CXCL5 CSF2
8 positive regulation of inflammatory response GO:0050729 10.33 IFNG TLR2 TLR3 TLR4 TLR9
9 positive regulation of NF-kappaB transcription factor activity GO:0051092 10.32 TLR9 TLR4 TLR3 TLR2 STAT3 IL6
10 defense response to Gram-negative bacterium GO:0050829 10.28 IL17A IL6 TLR4 TLR9
11 cellular response to virus GO:0098586 10.28 TYK2 TLR3 IL6 IFNG
12 positive regulation of type II interferon production GO:0032729 10.27 TYK2 TLR9 TLR4 TLR3
13 positive regulation of tyrosine phosphorylation of STAT protein GO:0042531 10.25 CSF2 IFNG IL4 IL6
14 positive regulation of NIK/NF-kappaB signaling GO:1901224 10.25 TLR2 TLR3 TLR4 TLR9
15 positive regulation of interleukin-1 beta production GO:0032731 10.25 IFNG IL17A IL6 STAT3 TLR4
16 receptor signaling pathway via JAK-STAT GO:0007259 10.23 TYK2 STAT3 IFNG CSF2
17 positive regulation of interferon-beta production GO:0032728 10.22 TLR9 TLR4 TLR3 TLR2
18 positive regulation of interleukin-8 production GO:0032757 10.21 TLR9 TLR4 TLR3 TLR2 STAT3 IL6
19 positive regulation of immunoglobulin production GO:0002639 10.2 IL10 IL4R IL6 TLR9
20 immune system process GO:0002376 10.19 TLR9 TLR4 TLR3 TLR2 IL4R IL17A
21 positive regulation of cytokine production involved in inflammatory response GO:1900017 10.19 TLR4 STAT3 IL6 IL17A
22 positive regulation of B cell proliferation GO:0030890 10.18 TLR9 TLR4 IL4
23 positive regulation of receptor signaling pathway via JAK-STAT GO:0046427 10.18 TYK2 IL6 IL10
24 positive regulation of interleukin-12 production GO:0032735 10.18 IFNG IL17A TLR2 TLR3 TLR4 TLR9
25 negative regulation of osteoclast differentiation GO:0045671 10.17 TLR4 TLR3 IL4
26 positive regulation of interferon-alpha production GO:0032727 10.16 TLR9 TLR4 TLR3
27 microglial cell activation GO:0001774 10.16 IFNG IL4 TLR2 TLR3 TLR9
28 positive regulation of tumor necrosis factor production GO:0032760 10.16 IFNG IL17A IL6 STAT3 TLR2 TLR3
29 positive regulation of interleukin-10 production GO:0032733 10.15 TLR9 TLR4 TLR2 STAT3 IL6 IL4
30 MyD88-dependent toll-like receptor signaling pathway GO:0002755 10.14 TLR2 TLR4 TLR9
31 positive regulation of macrophage activation GO:0043032 10.14 TLR4 IL4R IL10
32 macrophage activation GO:0042116 10.14 TLR4 IL4 CSF2
33 positive regulation of nitric-oxide synthase biosynthetic process GO:0051770 10.14 TLR9 TLR4 TLR2 IFNG
34 positive regulation of cytokine production GO:0001819 10.13 TLR9 TLR3 IL10 IFNG
35 toll-like receptor signaling pathway GO:0002224 10.11 TLR9 TLR4 TLR3 TLR2
36 positive regulation of MHC class II biosynthetic process GO:0045348 10.1 TLR4 IL4 IL10 IFNG
37 positive regulation of interleukin-23 production GO:0032747 10.09 IL17A IFNG CSF2
38 I-kappaB phosphorylation GO:0007252 10.08 TLR9 TLR4 TLR3 TLR2
39 positive regulation of interleukin-6 production GO:0032755 10.06 TLR9 TLR4 TLR3 TLR2 STAT3 IL6
40 response to molecule of bacterial origin GO:0002237 10.04 TLR9 TLR2 IL10
41 positive regulation of toll-like receptor signaling pathway GO:0034123 10.03 TLR9 TLR3 TLR2
42 neuroinflammatory response GO:0150076 10.01 IL4 IFNG
43 intestinal epithelial structure maintenance GO:0060729 10.01 TLR4 IL17A
44 regulation of isotype switching GO:0045191 10 IL4 IL10
45 regulation of dendritic cell cytokine production GO:0002730 10 TLR9 TLR4 TLR3
46 negative regulation of primary miRNA processing GO:2000635 9.99 STAT3 IL6
47 positive regulation of matrix metallopeptidase secretion GO:1904466 9.99 TLR4 TLR2
48 positive regulation of cellular response to macrophage colony-stimulating factor stimulus GO:1903974 9.97 TLR4 TLR2
49 regulation of cytokine production GO:0001817 9.89 TLR9 TLR2 IL10
50 positive regulation of chemokine production GO:0032722 9.8 IFNG IL4R IL6 TLR2 TLR3 TLR4

Molecular functions related to Hyper Ige Syndrome according to GeneCards Suite gene sharing:

# Name GO ID Score Top Affiliating Genes
1 cytokine activity GO:0005125 9.44 IL6 IL4 IL17A IL10 IFNG CXCL5
2 lipopolysaccharide immune receptor activity GO:0001875 9.26 TLR4 TLR2

Sources for Hyper Ige Syndrome

2 CDC
6 CNVD
8 Cosmic
9 dbSNP
10 DGIdb
16 EFO
17 ExPASy
18 FMA
19 GARD
27 GO
28 GTR
29 HMDB
30 HPO
31 ICD10
32 ICD10 via Orphanet
33 ICD11
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35 IUPHAR
36 LifeMap
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43 MeSH
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56 OMIM via Orphanet
57 OMIM® (Updated 08-Dec-2022)
61 PubChem
62 PubMed
64 QIAGEN
69 SNOMED-CT via HPO
70 Tocris
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72 UMLS via Orphanet
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